Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.

Genetic mapping in human disease. Science (2008) 15.12

Archaic African and Asian lineages in the genetic ancestry of modern humans. Am J Hum Genet (1997) 8.63

Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet (1984) 7.97

Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man. Proc Natl Acad Sci U S A (1983) 6.50

A highly polymorphic locus in human DNA revealed by cosmid-derived probes. Proc Natl Acad Sci U S A (1985) 5.81

The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci U S A (1985) 2.88

Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. Proc Natl Acad Sci U S A (1984) 2.86

The evolutionarily conserved repetitive sequence d(TG.AC)n promotes reciprocal exchange and generates unusual recombinant tetrads during yeast meiosis. Mol Cell Biol (1986) 2.86

Molecular and population genetic analysis of allelic sequence diversity at the human beta-globin locus. Proc Natl Acad Sci U S A (1994) 2.64

Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5. Am J Hum Genet (1989) 2.56

Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. Proc Natl Acad Sci U S A (1983) 2.56

A locus on chromosome 11p with multiple restriction site polymorphisms. Am J Hum Genet (1984) 2.48

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet (1989) 2.43

Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proc Natl Acad Sci U S A (1982) 2.24

Restriction fragment length polymorphisms associated with immunoglobulin C gamma genes reveal linkage disequilibrium and genomic organization. Proc Natl Acad Sci U S A (1983) 2.23

Molecular characterization of seven beta-thalassemia mutations in Asian Indians. EMBO J (1984) 2.04

A model for embryonal rhabdomyosarcoma tumorigenesis that involves genome imprinting. Proc Natl Acad Sci U S A (1989) 2.02

Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms. Nucleic Acids Res (1984) 2.00

Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. Proc Natl Acad Sci U S A (1984) 2.00

Nuclear scaffold attachment sites in the human globin gene complexes. EMBO J (1988) 1.97

Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis. J Clin Invest (1983) 1.95

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci U S A (1984) 1.92

Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. Proc Natl Acad Sci U S A (1983) 1.89

Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. Am J Hum Genet (1986) 1.89

A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia. J Clin Invest (1985) 1.85

beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site. Proc Natl Acad Sci U S A (1984) 1.81

Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation. Am J Hum Genet (2001) 1.73

Recombination hot spot in the human beta-globin gene cluster: meiotic recombination of human DNA fragments in Saccharomyces cerevisiae. Mol Cell Biol (1985) 1.63

On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups. Proc Natl Acad Sci U S A (1986) 1.63

Multiple restriction fragment length polymorphisms at the insulin receptor locus: a highly informative marker for linkage analysis. Proc Natl Acad Sci U S A (1986) 1.59

ATA box transcription mutation in beta-thalassemia. Nucleic Acids Res (1983) 1.59

Linkage disequilibria between pairs of loci within a highly polymorphic region of chromosome 2Q. Am J Hum Genet (1986) 1.50

Structural analysis of the 5' flanking region of the beta-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa. Proc Natl Acad Sci U S A (1988) 1.43

Hot and cold spots of recombination in the human genome: the reason we should find them and how this can be achieved. Am J Hum Genet (2003) 1.42

Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE) Am J Hum Genet (1994) 1.41

c-Ha-ras-1 oncogene lies between beta-globin and insulin loci on human chromosome 11p. Am J Hum Genet (1984) 1.37

Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene. Nucleic Acids Res (1982) 1.31

Identification of a recent recombination event within the human beta-globin gene cluster. Proc Natl Acad Sci U S A (1984) 1.30

The molecular basis of alpha-thalassaemia in Thailand. EMBO J (1984) 1.30

Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene. Am J Hum Genet (1984) 1.30

"Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA. Proc Natl Acad Sci U S A (1983) 1.25

Genetic analysis of eight linked polymorphisms within the human immunoglobulin heavy-chain region. Am J Hum Genet (1985) 1.23

Analysis of DNA haplotypes suggests a genetic predisposition to trisomy 21 associated with DNA sequences on chromosome 21. Proc Natl Acad Sci U S A (1985) 1.23

Direct haplotype determination by double ARMS: specificity, sensitivity and genetic applications. Nucleic Acids Res (1991) 1.22

A beta-globin gene, inactive in the K562 leukemic cell, functions normally in a heterologous expression system. Proc Natl Acad Sci U S A (1984) 1.21

The thalassemias: molecular mechanisms of human genetic disease. Am J Hum Genet (1983) 1.21

Optimizing selection of restriction enzymes in the search for DNA variants. Nucleic Acids Res (1984) 1.20

Diversity of beta-globin mutations in Israeli ethnic groups reflects recent historic events. Am J Hum Genet (1994) 1.16

A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster. EMBO J (1983) 1.16

Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers. Am J Hum Genet (1994) 1.15

Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulin-like growth factor II. Proc Natl Acad Sci U S A (1985) 1.13

Molecular basis of polymorphisms of human complement component C3. J Exp Med (1990) 1.08

Origin of cell populations after bone marrow transplantation. Analysis using DNA sequence polymorphisms. J Clin Invest (1985) 1.07

Rhabdomyosarcoma-associated locus and MYOD1 are syntenic but separate loci on the short arm of human chromosome 11. Proc Natl Acad Sci U S A (1990) 1.04

Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4). Proc Natl Acad Sci U S A (1986) 1.00

Ig gamma restriction fragment length polymorphisms indicate an ancient separation of Caucasian haplotypes. Am J Hum Genet (1986) 1.00

A gene tree for beta-globin sequences from Melanesia. J Mol Evol (1997) 1.00

Human chromosome 11 contains two different growth suppressor genes for embryonal rhabdomyosarcoma. Proc Natl Acad Sci U S A (1992) 0.98

Utility and efficiency of linked marker genes for genetic counseling. III. Proportion of informative families under linkage disequilibrium. Am J Hum Genet (1983) 0.98

Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA. Am J Hum Genet (1988) 0.97

Distribution of beta-thalassemia mutations in south China and their association with haplotypes. Am J Hum Genet (1987) 0.96

Hemolytic disease of the newborn caused by a new deletion of the entire beta-globin cluster. J Clin Invest (1983) 0.95

A beta-thalassemia lesion abolishes the same Mst II site as the sickle mutation. Nucleic Acids Res (1983) 0.94

Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis. J Med Genet (1987) 0.93

Analysis of the c-Ha-ras-1 gene for deletion, mutation, amplification and expression in lymph node metastases of human head and neck carcinomas. Br J Cancer (1990) 0.93

The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population. Proc Natl Acad Sci U S A (1987) 0.92

Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus. J Med Genet (1989) 0.92

Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes. Am J Hum Genet (1990) 0.90

Association of two DNA polymorphisms in the alpha-globin gene cluster: implications for genetic analysis. Am J Hum Genet (1983) 0.89

Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations. Am J Hum Genet (1993) 0.88

Evidence supporting a single origin of the beta(C)-globin gene in blacks. Am J Hum Genet (1985) 0.86

Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster. J Med Genet (1986) 0.85

Discrimination among the human beta A, beta S, and beta C-globin genes using allele-specific oligonucleotide hybridization probes. Am J Hum Genet (1985) 0.84

The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39. EMBO J (1984) 0.84

Globin gene-associated restriction-fragment-length polymorphisms in southern African peoples. Am J Hum Genet (1987) 0.84

Haplotypes identified by DNA restriction-fragment-length polymorphisms in the A-1 C-III A-IV gene region and hypertriglyceridemia. Am J Hum Genet (1987) 0.83

Linkage analysis of neurofibromatosis. J Med Genet (1987) 0.80

Extended haplotypes and linkage disequilibrium between 11 markers at the APOA1-C3-A4 gene cluster on chromosome 11. Am J Hum Genet (1991) 0.80

A linkage map of three anonymous human DNA fragments and SOD-1 on chromosome 21. EMBO J (1985) 0.79

A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia. J Med Genet (1984) 0.78

Developmental genetics of the human haemoglobins. Biochem J (1983) 0.76

beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis. J Med Genet (1985) 0.76

Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia. J Med Genet (1988) 0.75

Allan Award Lecture: on jumping fields and "jumping genes". Am J Hum Genet (2009) 0.75

A new epsilon globin HincII variant fragment length in a South African Negroid family. J Med Genet (1986) 0.75

Regulation of fetal hemoglobin synthesis in sickle cell anemia. Trans Am Clin Climatol Assoc (1987) 0.75

Delta beta-thalassaemia in southern Italy: evidence for a single mutational event. J Med Genet (1984) 0.75

2014 William Allan Award: A hematologist's pursuit of hemoglobin genetics. Am J Hum Genet (2015) 0.75

The occurrence of the alpha G-Philadelphia-globin allele on a double-locus chromosome. Am J Hum Genet (1984) 0.75

Origin heterogeneity of Hb Lepore-Boston gene in Italy. Am J Hum Genet (1992) 0.75

The molecular basis of beta thalassaemia in Bulgaria. J Med Genet (1989) 0.75

Beta globin frameworks in thalassemia major patients from north iran. Iran J Pediatr (2012) 0.75

Beta thalassaemia mutations in Turkish Cypriots. J Med Genet (1988) 0.75

Comment on "Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia". Rev Bras Hematol Hemoter (2014) 0.75

A phased SNP-based classification of sickle cell anemia HBB haplotypes. BMC Genomics (2017) 0.75

Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol (1975) 503.08

The structure and evolution of the human beta-globin gene family. Cell (1980) 21.24

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A (1978) 16.54

DNA sequence variants in the G gamma-, A gamma-, delta- and beta-globin genes of man. Cell (1979) 15.74

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A (1977) 13.87

A physical map of the DNA regions flanking the rabbit beta-globin gene. Cell (1977) 12.96

Molecular cloning and characterization of the human beta-like globin gene cluster. Cell (1980) 7.77

Repetitive sequences in isolated Thomas circles from Drosophila melanogaster. Cold Spring Harb Symp Quant Biol (1974) 6.72

Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. Lancet (1978) 6.19

Insertion of synthetic copies of human globin genes into bacterial plasmids. Nucleic Acids Res (1978) 5.99

Caucasian genes in American Negroes. Science (1969) 5.72

Restriction endonuclease mapping of the human gamma globin gene loci. Nucleic Acids Res (1979) 4.55

Average heterozygosity per locus in man: an estimate based on the incidence of enzyme polymorphisms. Ann Hum Genet (1972) 4.29

Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia. N Engl J Med (1980) 3.72

DNA restriction endonuclease analysis for localization of human beta- and delta-globin genes on chromosome 11. Proc Natl Acad Sci U S A (1979) 3.02

Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes. J Biol Chem (1981) 2.02

Model for antenatal diagnosis of beta-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms. Nature (1980) 1.79

Prenatal diagnosis of beta-thalassemias by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites. Blood (1980) 1.73

Prenatal diagnosis of human genome variation. Annu Rev Genet (1979) 1.73

Prenatal diagnosis of sickle cell anemia by restriction and endonuclease analysis: HindIII polymorphisms in gamma-globin genes extend test applicability. Proc Natl Acad Sci U S A (1980) 1.71

Molecular cloning of human epsilon-globin gene. Proc Natl Acad Sci U S A (1979) 1.56

Population heterogeneity of the Hpa I restriction site associated with the beta globin gene: implications for prenatal diagnosis. Am J Hum Genet (1981) 1.22

Genetic polymorphisms in human blood. Annu Rev Genet (1977) 0.95

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat (2000) 13.25

The DNA sequence of human chromosome 21. Nature (2000) 10.66

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature (1982) 9.47

High frequency retrotransposition in cultured mammalian cells. Cell (1996) 8.60

Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA. Nature (1987) 8.58

Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition. Cell (1996) 8.21

Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet (1984) 7.97

Nomenclature for the description of human sequence variations. Hum Genet (2001) 7.90

Biology of mammalian L1 retrotransposons. Annu Rev Genet (2001) 6.52

Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man. Proc Natl Acad Sci U S A (1983) 6.50

Many human L1 elements are capable of retrotransposition. Nat Genet (1997) 6.27

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature (1988) 6.01

Reverse transcriptase encoded by a human transposable element. Science (1991) 5.86

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA. Annu Rev Genet (1984) 5.74

Positional cloning of the APECED gene. Nat Genet (1997) 5.47

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature (1990) 5.42

Human L1 retrotransposition: cis preference versus trans complementation. Mol Cell Biol (2001) 5.23

Report of the Committee on the Genetic Constitution of Chromosomes 10, 11, and 12. Cytogenet Cell Genet (1985) 5.01

Exon shuffling by L1 retrotransposition. Science (1999) 4.99

Hypoxia-inducible nuclear factors bind to an enhancer element located 3' to the human erythropoietin gene. Proc Natl Acad Sci U S A (1991) 4.84

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet (1993) 4.12

Isolation of an active human transposable element. Science (1991) 3.99

OMIM passes the 1,000-disease-gene mark. Nat Genet (2000) 3.92

Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A. Nat Genet (1995) 3.74

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc Natl Acad Sci U S A (1990) 3.72

Presymptomatic diagnosis of delayed-onset disease with linked DNA markers. The experience in Huntington's disease. JAMA (1989) 3.65

Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc Natl Acad Sci U S A (1989) 3.50

Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood (2000) 3.36

Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis (1994) 3.12

Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet (1998) 3.00

Determination of L1 retrotransposition kinetics in cultured cells. Nucleic Acids Res (2000) 2.84

Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP. Nat Cell Biol (2001) 2.75

Molecular basis and prenatal diagnosis of beta-thalassemia. Blood (1988) 2.70

A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion. Nat Genet (1994) 2.68

Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis. N Engl J Med (1982) 2.64

Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. N Engl J Med (1988) 2.64

Transduction of 3'-flanking sequences is common in L1 retrotransposition. Hum Mol Genet (2000) 2.57

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature (1987) 2.49

Deletion of the beta-globin structure gene in hereditary persistence of foetal haemoglobin. Nature (1975) 2.45

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nat Genet (1992) 2.40

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. N Engl J Med (1990) 2.37

Polycythemia in transgenic mice expressing the human erythropoietin gene. Proc Natl Acad Sci U S A (1989) 2.27

Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science (1987) 2.27

Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proc Natl Acad Sci U S A (1982) 2.24

A novel active L1 retrotransposon subfamily in the mouse. Genome Res (2001) 2.21

Quantification of the close association between DNA haplotypes and specific beta-thalassaemia mutations in Mediterraneans. Nature (1984) 2.18

Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients. Am J Med Genet (1997) 2.17

Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics (1989) 2.16

Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells. Hum Mol Genet (1999) 2.15

Twin priming: a proposed mechanism for the creation of inversions in L1 retrotransposition. Genome Res (2001) 2.14

Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina. Proc Natl Acad Sci U S A (1991) 2.10

Cell-type-specific and hypoxia-inducible expression of the human erythropoietin gene in transgenic mice. Proc Natl Acad Sci U S A (1991) 2.09

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature (1997) 2.09

DNA polymorphism and molecular pathology of the human globin gene clusters. Hum Genet (1985) 2.09

Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia. N Engl J Med (1983) 2.06

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet (2001) 2.06

Molecular characterization of seven beta-thalassemia mutations in Asian Indians. EMBO J (1984) 2.04

Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. Proc Natl Acad Sci U S A (1984) 2.00

An actively retrotransposing, novel subfamily of mouse L1 elements. EMBO J (1998) 1.99

Switch from monoallelic to biallelic human IGF2 promoter methylation during aging and carcinogenesis. Proc Natl Acad Sci U S A (1996) 1.99

Abnormal RNA processing due to the exon mutation of beta E-globin gene. Nature (1982) 1.98

Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. Am J Hum Genet (1998) 1.98

Meis1 and pKnox1 bind DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein E2a-Pbx1. Proc Natl Acad Sci U S A (1997) 1.97

Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis. J Clin Invest (1983) 1.95

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. Am J Hum Genet (1988) 1.93

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci U S A (1984) 1.92

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis. N Engl J Med (1985) 1.91

Human erythropoietin gene expression in transgenic mice: multiple transcription initiation sites and cis-acting regulatory elements. Mol Cell Biol (1990) 1.88

Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1: Part 1. Am J Med Genet (1994) 1.86

Construction of human chromosome 21-specific yeast artificial chromosomes. Proc Natl Acad Sci U S A (1989) 1.83

Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene. Am J Hum Genet (1989) 1.81